CD83[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146907	GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3	CD83, DTNBP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 2365056	NM_004233.4(CD83):c.5C>T (p.Ser2Leu)	CD83, LOC123575673	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324455	NM_004233.4(CD83):c.64G>A (p.Glu22Lys)	CD83, LOC123575673	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140687	NM_004233.4(CD83):c.88G>A (p.Asp30Asn)	CD83, LOC123575673 (D30N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547210	NM_004233.4(CD83):c.125A>G (p.Gln42Arg)	CD83, LOC123575673	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140681	NM_004233.4(CD83):c.196G>T (p.Asp66Tyr)	CD83 (D66Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140682	NM_004233.4(CD83):c.236A>T (p.Asn79Ile)	CD83 (N20I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264881	NM_004233.4(CD83):c.250G>T (p.Ala84Ser)	CD83 (A84S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140683	NM_004233.4(CD83):c.284G>A (p.Arg95Gln)	CD83 (R36Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140684	NM_004233.4(CD83):c.292A>G (p.Thr98Ala)	CD83 (T39A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273802	NM_004233.4(CD83):c.334C>T (p.Pro112Ser)	CD83	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140685	NM_004233.4(CD83):c.359G>A (p.Gly120Asp)	CD83 (G120D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140686	NM_004233.4(CD83):c.364G>T (p.Val122Leu)	CD83 (V63L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406211	NM_004233.4(CD83):c.500G>A (p.Arg167Gln)	CD83	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264882	NM_004233.4(CD83):c.508A>G (p.Ser170Gly)	CD83 (S170G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566694	NM_004233.4(CD83):c.529A>G (p.Lys177Glu)	CD83	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782470	NM_004233.4(CD83):c.545G>A (p.Arg182Gln)	CD83 (R181Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2211633	NM_004233.4(CD83):c.595C>T (p.Pro199Ser)	CD83	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1808641	GRCh37/hg19 6p23-22.3(chr6:13891547-15718444)x1	CD83, DTNBP1 +2 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527223	GRCh37/hg19 6p24.1-22.3(chr6:12924014-15975708)	CD83, DTNBP1 +9 more	Copy number loss	not specified	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 814791	GRCh37/hg19 6p23(chr6:14122526-14532758)x3	CD83	Copy number gain	not provided	GUncertain significance
Select item 689105	GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3	ATXN1, CAP2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 686044	GRCh37/hg19 6p23(chr6:13933934-14154068)x1	CD83, RNF182	Copy number loss	not provided	GUncertain significance
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43